FG syndrome 1

Definition

Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.

Also known as FG syndrome 1, FG syndrome caused by mutation in MED12, FG Syndrome Type 1, MED12 FG syndrome, Opitz-Kaveggia syndrome, X-linked recessive — per MONDO

Also identified as

• OMIM 305450 per MONDO
• Orphanet 93932 per MONDO
• SCTID 1237179007 per MONDO
• UMLS C5399762 per MONDO